Noninvasive prenatal genetic testing, which utilizes cell-free fetal DNA and advances in sequencing technology, is revolutionizing the practice of obstetrics. While currently used as a screen for a limited number of aneuploidies and genetic conditions, noninvasive testing is anticipated to employ whole fetal exome and genome sequencing to identify not only monogenic disorders but also microduplications, microdeletions, and variants of uncertain clinical significance.

Prenatal testing is evolving in two important ways: first, advances in genomic medicine mean that samples of fetal DNA obtained with invasive methods (such as amniocentesis) can be analyzed using microarray analysis or whole genome sequencing, revealing far more information about the fetus's genetic make-up than was previously possible; and second, new, non-invasive prenatal tests have been introduced that isolate fragments of fetal DNA circulating in a pregnant woman's blood, making possible safe, highly accurate genetic testing much earlier in pregnancy than was previously possi

This application is to fund the University of Utah Center of Excellence in ELSI Research (UCEER). The University of Utah has a strong tradition in human genetics and ELSI research and this proposal will build on our successful development and management of a P20 funded CEER. The proposed UCEER will focus primarily, although not exclusively, on issues relevant to population screening for genetic conditions in the healthcare of women, children, and young families.

Non-invasive prenatal testing (NIPT), a cell-free DNA screening test of fetal chromosomal abnormalities using maternal plasma, has been heralded as ?revolutionizing prenatal screening and diagnosis. Introduced commercially in late 2011, the rapid clinical adoption of NIPT highlights genomic medicine?s growth and enormous promise for patient care. The research landscape stemming from genomic and precision medicine endeavors, however, necessitates concomitant efforts to monitor population health impact and assure equity in access to these advances.

Noninvasive prenatal genetic testing (NIPT) is revolutionizing the practice of obstetrics. However, the technol- ogy is expanding rapidly and in a way that has outpaced the rate at which evidence-based strategies for its in- tegration can be developed and implemented. Initially, NIPT was used as a screen for a limited number of an- euploidies and genetic conditions.

Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.

Background: There is great interest in the implementation of genomic medicine, i.e., using genomic information to inform patient care. As a result, patients with medically actionable (preventable and/or treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of screening in the absence of a clinically known condition. The identification of a previously unsuspected medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to prevent disease.

Recent expansions in prenatal genetic testing have renewed concerns from both disability advocates and right- to-life movements that these tests serve primarily to enable elective terminations, However, as prenatal genetic testing becomes easier, safer, and more accessible, many women say they choose it for a very different reason: preparation.

PROJECT NARRATIVE Preparation is often cited as a reason for offering and for accepting prenatal genetic screening and diagnosis. However, this term has no clear definition, and thus it is impossible either to prove benefit or to recommend best practices.

PROJECT NARRATIVE The goal of this study is to study the effect of an evidence-based communication tool to support patients? decision-making about noninvasive prenatal genetic testing, by focusing on the communication that takes place in the clinical encounter.